ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2568C>T (p.Pro856=) (rs184556149)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466571 SCV000554824 likely benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2016-08-06 criteria provided, single submitter clinical testing
Color RCV000775561 SCV000909925 likely benign Familial hypercholesterolemias 2018-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000841460 SCV000983428 likely benign not provided 2018-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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